ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)

gnomAD frequency: 0.00016  dbSNP: rs201091376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464905 SCV000542950 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000597470 SCV000709122 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000597470 SCV000977668 likely benign not provided 2018-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002339120 SCV002641247 uncertain significance Cardiovascular phenotype 2019-01-14 criteria provided, single submitter clinical testing The p.R17563P variant (also known as c.52688G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 52688. The arginine at codon 17563 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330689 SCV004038664 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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